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Center for Jewish Genetics blog

I remember when I first learned about the BRCA gene in one
of my college genetics classes. We discussed that a mutation in the BRCA gene
drastically increases a person’s risk for breast and ovarian cancer, and that
there was a simple blood test that could help someone learn if they were born
with such a mutation. At the time, a single laboratory held a patent on the
BRCA gene and the corresponding genetic test. The price of a BRCA test was well
over $2,000, which I found shocking. Here was a test that could help save lives,
yet the price was prohibitive for so many people who could benefit from it.

In a
landmark 2013 case, the Supreme Court ruled unanimously that human genes could not be
patented. This freed up ownership of the BRCA test and was a huge victory for
ensuring patient access to quality healthcare and allowing the medical
community to further scientific advancements around the BRCA gene. The day
after the Supreme Court decision, a number of other commercial laboratories
started to advertise their offerings for BRCA testing. With more than one
player in the market, the cost of testing quickly went down.

This
June marks the five-year anniversary of this landmark legal ruling. In the last
five years, there have been rapid developments in our knowledge of cancer
genetics and the breadth of testing options. The rise of direct-to-consumer
(DTC) genetic tests has also made genetic testing more widely available than
ever, including some tests that provide information about inherited cancer risk.
However, DTC tests pose a new set of challenges when it comes to accessing
genetic tests.

As a genetic counselor, I have always
been an advocate for patient access to important genetic technologies. But I
also caution people to remember that not all genetic tests are the same. Direct-to-consumer
tests that you can order without a healthcare provider do not meet the same
technical standards as clinical testing, and ultimately provide a much more
limited picture of your health risk. In the era of Amazon Prime, it may seem
like the most efficient option to order a BRCA test for yourself online. But I
think I speak for many an online shopper when I say that putting something in
your cart just because it is convenient at the time often ends in regret.
Genetic testing is no different. Ordering a BRCA test online may seem
convenient, but genetic tests can be quite complex, and you may be left with unanswered
questions after you receive results. Learning information about your risk for
cancer is empowering, but it can also be scary without the proper guidance and
support.

Like with any important purchase, I recommend
you do your research before you commit to taking any action, and the Sarnoff
Center offers a wealth of resources to help. You can start by reviewing a
statement from the Sarnoff Center Board of Directors that outlines four key points for
community members to understand when considering direct-to-consumer testing.
Another good first step is to meet with a healthcare provider who specializes
in cancer risk assessment to discuss your options. Genetic counselors and other
clinicians can help provide access to the most comprehensive testing that is
tailored towards your personal and family health history, and can guide you
with what to do about genetic testing results. In my opinion, access to genetic
testing is something everyone has a right to, but access to quality genetic
counseling about test results is equally important.

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of
genetic disorders
. Talk to your relatives for warning signs and
assess your risk
for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you?
Click here to learn more
.